WCLC & ESMO | Genetron Health Makes New Breakthrough in Lung Cancer Research

Release time:2019-09-27

Barcelona, Spain, September 2019 – Two prestigious academic events, the World Lung Cancer Congress (WCLC) and the European Society of Medical Oncology (ESMO) are held. The two influential academic events attracted many scholars from around the world to discuss the latest research progress and on how to overcome the difficulties of cancer diagnosis and treatment.


WCLC & ESMO | Genetron Health Makes New Breakthrough in Lung Cancer Research


As a pioneer in precision diagnosis and treatment of cancer, Genetron Health has always adhered to the research philosophy of  'Exploration, discovery, application and change' to support clinical needs. At this year's WCLC and ESMO annual meeting, Genetron Health, with its full-cycle service system, showcased research results out of cooperation with well-known Chinese cancer research centers, and also presented in the form of posters.


The two studies published this time centered on lung cancer - lung cancer brain metastasis and lung cancer in high-altitude populations. Through accurate high-throughput sequencing and bio-information data analysis offered by Genetron Health, the researchers made important discoveries and breakthroughs, which played an important guiding role in precise diagnosis and treatment of lung cancer. The release of the results also reflects the high recognition on Genetron Health’s lung cancer research, especially in the aspects of sequencing technology and quality, data analysis and application.


In addition to the two research results released this time, more research projects in cooperation with Genetron Health are underway.


Poster 1


Loss of heterozygosity of oncogene ERBB2 with an activating mutation V659E was as driver mutation identified in leptomeningeal metastasis of NSCLC-case report


WCLC & ESMO | Genetron Health Makes New Breakthrough in Lung Cancer Research


Released on: WCLC


Cooperative Hospital: Cancer Institute and Hospital, Tianjin Medical University


Key message: lung cancer brain metastasis; loss of heterozygosity for proto-oncogene with activation mutations; rare case


Detection panel: Genetron Health 180 genes lung cancer testing


Clinical significance:


This case first reports the loss of heterozygosity of proto-oncogene with activation mutations. In this case, bevacizumab combined with gemcitabine may be a better option than afatinib in a patient with loss of heterozygosity of ERBB2 harboring V659E mutation. In addition, it is speculated that the loss of heterozygosity of proto-oncogene activating mutation may play a role in tumor development or targeted therapeutic resistance.


Research purpose:


Compared with the loss of heterozygosity of tumor suppressor genes that have been well studied, the loss of heterozygosity of proto-oncogenes has never been reported so far, and whether it plays a role in the development of tumors is still unclear.


In this case, the ERBB2 V659E mutation with a mutation frequency of 96.8% was detected in cerebrospinal fluid from a NSCLC patient with leptomeningeal metastasis. The single-nucleotide polymorphism (SNP) heterozygosity analysis confirmed the loss of heterozygosity of ERBB. The loss of heterozygosity of ERBB2 harboring V659E was likely to be the earliest driving events in the meningeal metastases.


According to previous study that three out of four NSCLC patients harboring ERBB2 V659E had clinical benefit of afatinib. However, the patient in this case did not respond to afatinib treatment, but were well controlled after receiving bevacizumab plus gemcitabine. Accompanied by tumor shrinkage, the mutation frequency of ERBB2 V659E was reduced by nearly 20%.


Poster 2


Mutation profile of Tibetan lung cancer revealed by Whole Exome Sequencing


WCLC & ESMO | Genetron Health Makes New Breakthrough in Lung Cancer Research


Released on: ESMO


Cooperative Hospital: West China Hospital, Sichuan University


Key information: Tibetan lung cancer population at high altitude; whole exome sequencing; analysis of gene mutation characteristics


Detection panel: whole exome sequencingof Genetron Health


Clinical significance:


The study reveals for the first time the genetic mutation characteristics of Tibetan lung cancer populations at high altitudes, and provides a valuable real-world model for studying the role of hypoxic environment in the development of lung cancer. It is of great significance for guiding the precise treatment of lung cancer in Tibetan and high-altitude populations.


Research purpose:


Tibetans are accustomed to living on plateaus with an average altitude of over 3,000 meters and low oxygen, and hypoxia is one of the important factors known to affect tumor development. Therefore, Tibetan lung cancer populations may have genetic characteristics different from those living in other regions, and it may be related to hypoxia.


The team performed whole exome sequencingon 17 paraffin-embedded specimens (FFPE) of patients with stage I-III Tibetan non-small cell lung cancer (Tibetan-LUAD/LUSC) and compare the test results with non-small cell lung cancer (TCGA-LUAD/LUSC) data in the Caucasian population and Han non-small cell lung cancer (Han-NSCLC) data. The study found that the C>T mutation frequency was significantly higher in Tibetan non-small cell lung cancer patients (NSCLC) than in Caucasian and Han NSCLC (p<0.001), thus it is likely to be related to environmental factors.


In addition, the study also revealed the similarities and differences in the high-frequency mutations between Tibetan lung cancer populations and Caucasian and Han lung cancer patients, and suggested that HIPPO pathway mutations are more abundant in Tibetan lung squamous cell carcinoma. The HIPPO pathway mutation may play an important role in Tumor occurrence. 


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